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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1841 1
1869 2
1874 1
1875 2
1876 1
1879 2
1880 3
1885 1
1886 1
1887 2
1893 1
1898 3
1904 1
1941 1
1946 1
1948 1
1949 1
1950 1
1952 2
1956 1
1957 3
1959 4
1960 3
1962 3
1963 1
1964 2
1965 4
1967 1
1968 3
1969 4
1970 2
1971 3
1972 2
1973 2
1974 2
1977 2
1978 3
1979 5
1980 4
1981 7
1982 2
1983 1
1984 2
1985 7
1986 7
1987 5
1988 8
1989 3
1990 7
1991 5
1992 3
1993 6
1994 10
1995 9
1996 5
1997 10
1998 4
1999 12
2000 9
2001 20
2002 13
2003 18
2004 15
2005 12
2006 18
2007 19
2008 17
2009 22
2010 26
2011 30
2012 27
2013 28
2014 29
2015 29
2016 33
2017 21
2018 21
2019 36
2020 32
2021 34
2022 58
2023 53
2024 8

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Publication date

Search Results

747 results

Results by year

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: black g. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE. Cehajic-Kapetanovic J, et al. Among authors: black gcm. Nat Med. 2020 Mar;26(3):354-359. doi: 10.1038/s41591-020-0763-1. Epub 2020 Feb 24. Nat Med. 2020. PMID: 32094925 Free PMC article. Clinical Trial.
Reply.
Linton E, Jalil A, Sergouniotis P, Moussa G, Black G, Charles S, Ivanova T. Linton E, et al. Among authors: black g. Retina. 2023 Sep 1;43(9):e53. doi: 10.1097/IAE.0000000000003830. Retina. 2023. PMID: 37155940 No abstract available.
Reply.
Inglehearn CF, Yahya S, Smith CEL, Poulter JA, Ali M, Toomes C, Ellingford J, Black GC, Arno G, Webster AR. Inglehearn CF, et al. Among authors: black gc. Ophthalmology. 2023 Mar;130(3):e9-e10. doi: 10.1016/j.ophtha.2022.10.015. Epub 2022 Nov 15. Ophthalmology. 2023. PMID: 36400608 Free article. No abstract available.
Author response.
Ip A, Black G, Vindrola C, Taylor C, Otter S, Hewish M, Bhuiya A, Callin J, Wong A, Machesney M, Fulop NJ, Taylor C, Whitaker KL. Ip A, et al. Among authors: black g. Br J Gen Pract. 2022 Jul 28;72(721):372-373. doi: 10.3399/bjgp22X720245. Print 2022 Aug. Br J Gen Pract. 2022. PMID: 35902248 Free PMC article. No abstract available.
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM. Ellingford JM, et al. Among authors: black gcm. J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11. J Med Genet. 2016. PMID: 27208204 Free PMC article.
Validating the Brain Injury Guidelines: Results of an American Association for the Surgery of Trauma prospective multi-institutional trial.
Joseph B, Obaid O, Dultz L, Black G, Campbell M, Berndtson AE, Costantini T, Kerwin A, Skarupa D, Burruss S, Delgado L, Gomez M, Mederos DR, Winfield R, Cullinane D; AAST BIG Multi-institutional Study Group. Joseph B, et al. Among authors: black g. J Trauma Acute Care Surg. 2022 Aug 1;93(2):157-165. doi: 10.1097/TA.0000000000003554. Epub 2022 Mar 28. J Trauma Acute Care Surg. 2022. PMID: 35343931
Personalized ophthalmology.
Porter LF, Black GC. Porter LF, et al. Among authors: black gc. Clin Genet. 2014 Jul;86(1):1-11. doi: 10.1111/cge.12389. Clin Genet. 2014. PMID: 24665880 Free PMC article. Review.
747 results